{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:46:46Z","timestamp":1790678806225,"version":"4.1.0"},"reference-count":151,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,1,31]],"date-time":"2021-01-31T00:00:00Z","timestamp":1612051200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DO 545\/20-1"],"award-info":[{"award-number":["DO 545\/20-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Telethon Foundation","doi-asserted-by":"publisher","award":["GGP16235"],"award-info":[{"award-number":["GGP16235"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the DNA binding domain cause Ectrodactyly, Ectodermal Dysplasia, characterized by limb deformation, cleft lip\/palate, and ectodermal dysplasia while mutations in in the C-terminal domain of the \u03b1-isoform cause Ankyloblepharon-Ectodermal defects-Cleft lip\/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility, severe, long-lasting skin erosions, and cleft lip\/palate. The molecular disease mechanisms of these syndromes have recently become elucidated and have enhanced our understanding of the role of p63 in epidermal development. Here we review the molecular cause and functional consequences of these p63-mutations for skin development and discuss the consequences of p63 mutations for female fertility.<\/jats:p>","DOI":"10.3390\/cancers13030536","type":"journal-article","created":{"date-parts":[[2021,1,31]],"date-time":"2021-01-31T04:53:00Z","timestamp":1612068780000},"page":"536","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Isoform-Specific Roles of Mutant p63 in Human Diseases"],"prefix":"10.3390","volume":"13","author":[{"given":"Christian","family":"Osterburg","sequence":"first","affiliation":[{"name":"Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance, Goethe University, 60438 Frankfurt, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Osterburg","sequence":"additional","affiliation":[{"name":"Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance, Goethe University, 60438 Frankfurt, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiqing","family":"Zhou","sequence":"additional","affiliation":[{"name":"Radboud Institute for Molecular Life Sciences, Molecular Developmental Biology, Radboud University, 6525 GA Nijmegen, The Netherlands"},{"name":"Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Missero","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Naples Federico II, 80126 Napoli, Italy"},{"name":"Center for Genetic Engineering, CEINGE Biotecnologie Avanzate, 80145 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5720-212X","authenticated-orcid":false,"given":"Volker","family":"D\u00f6tsch","sequence":"additional","affiliation":[{"name":"Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance, Goethe University, 60438 Frankfurt, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1038\/s41568-020-0262-1","article-title":"p53: 800 million years of evolution and 40 years of discovery","volume":"20","author":"Levine","year":"2020","journal-title":"Nat. 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